Disease Risk: Would you Want to Know?

The very first assignment for this class was to watch a Nova program called “Cracking the Code of Life.”  It traces the race to sequence the human genome, beginning in the early nineties and finishing in 2000.

Because of the sequencing of the human genome, scientists have begun to recognize correspondences between particular genetic mutations and the presence of disease.  Some diseases have a straightforward genetic cause.  Huntington’s Disease and Cystic Fibrosis have single letter mutations, and the presence of these mutations can definitively answer whether or not an individual has these diseases. On the other hand, some mutations only indicate an elevated risk of a particulate disease.  For example, the BRCA-1 and BRCA-2 genes, when mutated, demonstrated an 80% chance of that individual developing breast cancer sometime during their lifetime.

There are companies popping up that screen your DNA, looking for genetic markers that indicate elevated risk for particular diseases.  Below is a link to an advertisement for one of these companies called 23andme.


This is a terrific opportunity for individuals to find out their own predispositions toward disease and to act accordingly.  However, the question is, would you want to know?  I had this very conversation with my significant other, who happens to be in the medical field.  He says he would want to know, but I am not so sure.  Absolutely you would be able to make lifestyle changes to either reduce the risk of illness or be more vigilant for warning signs in order to catch it early.  Would you want that information hanging over you?  The narrator of the documentary states: “It is not easy waking up every morning wondering if today is the day you will get sick.”  What if you did find out that you had a mutation and that your children could have it too?  Would you be able to live with the consequences to not only yourself, but to your family, if you took the test?  For me, living a healthy lifestyle and routine screenings by medical professionals are enough to be careful and ensure my health without adding extra stress about diseases I could possibly get. What do you think?



~ by elmore12 on January 13, 2012.

2 Responses to “Disease Risk: Would you Want to Know?”

  1. I would definitely want to know. It could be anything. It could be a heart related issue meaning over-exercise would be bad. It could be something that cutting certain products from your diet would help with (products that wouldn’t otherwise be considered unhealthy). It could be that certain types of food supplements would make suffering less likely or less severe. The list goes on…
    Yes, I’d want to know. And especially for my kids.

  2. This is perhaps one of the more difficult questions anyone would ask. It probably varies from one individual to the next and may depend on what genetic disease has been determined. One example would be genetic variations that could lead to diseases such as diabetes II, Alzheimer’s or higher cholesterol. A person could potentially slow or inhibit the onset of such diseases through diet and healthier lifestyles. One area of research has published works that Alzheimer’s and diet are potentially linked. Cancer is another disease that associates genetics with environmental conditions.

    What about diseases that inevitably have no treatment or cure?

    The problem with many genetic diseases is the unknown factors that cause expression of mutated regions that eventually leads to disease. Research has not yet discovered these relationships simply through sequencing the entire human genome.

    Perhaps we have not reached a phase in research where knowing genetic mutations that cause disease is enough for proper evaluation.

    Would I want to know if I am predisposed to a genetic disease in the future? It depends on whether it is something that lifestyle, diet and exercise, could help control. If it is a genetic disease that will inevitably be fatal. Then the answer is no. Simply knowing could reduce the quality of life.

    Doug B.

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